| http://purl.uniprot.org/citations/7773732 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7773732 | http://www.w3.org/2000/01/rdf-schema#comment | "Cholesterol ester storage disease (CESD) is associated with premature atherosclerosis, hepatomegaly, elevated LDL cholesterol levels, and in most cases, low HDL cholesterol levels. Previous studies have shown a G-->A mutation at the 3' splice junction of exon 8 (E8SJM) of the gene encoding lysosomal acid lipase (LAL) in two kindreds with CESD. In a Canadian-Norwegian kindred with this disease, we show this mutation in conjunction with an as yet unknown T-->C transition in exon 10 predicting a Leu336-->Pro (L336P) replacement and an A-->C transversion in exon 2 predicting a T-6P replacement in the prepeptide. Identification of the L336P rather than the T-6P replacement as the second defect underlying CESD in our patient is deduced from three lines of evidence. First, the E8SJM allele is located in cis with the mutation predicting the T-6P-encoding allele but in trans with the L336P-encoding allele; second, the L336P but not the T-6P replacement cosegregates with low LAL activity in the family; third, the T-6P replacement was found in 6 of 28 alleles from subjects with normal lysosomal acid lipase activity, suggesting that this variant represents a frequent nonfunctional polymorphism. Since the residual LAL activity is higher and the clinical phenotype based on plasma lipid values and severity of hepatosplenomegaly is milder in this case than in a previously studied case who was homozygous for the E8SJM allele, we conclude that the L336P variant appears to be associated with a phenotypically mild form of CESD."xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.org/dc/terms/identifier | "doi:10.1161/01.atv.15.6.773"xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/author | "Assmann G."xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/author | "Funke H."xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/author | "Ose L."xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/author | "Seedorf U."xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/author | "Skovby F."xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/author | "Wiebusch H."xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/author | "Christensen N.C."xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/author | "Muntoni S."xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/author | "Nickel V."xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/author | "Roskos M."xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/name | "Arterioscler Thromb Vasc Biol"xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/pages | "773-778"xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/title | "A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease."xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://purl.uniprot.org/core/volume | "15"xsd:string |
| http://purl.uniprot.org/citations/7773732 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/7773732 |
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| http://purl.uniprot.org/uniprot/#_B3KU19-mappedCitation-7773732 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/7773732 |
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| http://purl.uniprot.org/uniprot/#_B4DE67-mappedCitation-7773732 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/7773732 |